BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 19953608)

  • 1. The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
    Pannicke U; Hönig M; Schulze I; Rohr J; Heinz GA; Braun S; Janz I; Rump EM; Seidel MG; Matthes-Martin S; Soerensen J; Greil J; Stachel DK; Belohradsky BH; Albert MH; Schulz A; Ehl S; Friedrich W; Schwarz K
    Hum Mutat; 2010 Feb; 31(2):197-207. PubMed ID: 19953608
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
    Felgentreff K; Lee YN; Frugoni F; Du L; van der Burg M; Giliani S; Tezcan I; Reisli I; Mejstrikova E; de Villartay JP; Sleckman BP; Manis J; Notarangelo LD
    J Allergy Clin Immunol; 2015 Jul; 136(1):140-150.e7. PubMed ID: 25917813
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lentivirus Mediated Correction of Artemis-Deficient Severe Combined Immunodeficiency.
    Punwani D; Kawahara M; Yu J; Sanford U; Roy S; Patel K; Carbonaro DA; Karlen AD; Khan S; Cornetta K; Rothe M; Schambach A; Kohn DB; Malech HL; McIvor RS; Puck JM; Cowan MJ
    Hum Gene Ther; 2017 Jan; 28(1):112-124. PubMed ID: 27611239
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
    Volk T; Pannicke U; Reisli I; Bulashevska A; Ritter J; Björkman A; Schäffer AA; Fliegauf M; Sayar EH; Salzer U; Fisch P; Pfeifer D; Di Virgilio M; Cao H; Yang F; Zimmermann K; Keles S; Caliskaner Z; Güner SÜ; Schindler D; Hammarström L; Rizzi M; Hummel M; Pan-Hammarström Q; Schwarz K; Grimbacher B
    Hum Mol Genet; 2015 Dec; 24(25):7361-72. PubMed ID: 26476407
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
    Noordzij JG; Verkaik NS; van der Burg M; van Veelen LR; de Bruin-Versteeg S; Wiegant W; Vossen JM; Weemaes CM; de Groot R; Zdzienicka MZ; van Gent DC; van Dongen JJ
    Blood; 2003 Feb; 101(4):1446-52. PubMed ID: 12406895
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide.
    Ijspeert H; Lankester AC; van den Berg JM; Wiegant W; van Zelm MC; Weemaes CM; Warris A; Pan-Hammarström Q; Pastink A; van Tol MJ; van Dongen JJ; van Gent DC; van der Burg M
    Genes Immun; 2011 Sep; 12(6):434-44. PubMed ID: 21390052
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches.
    van der Burg M; Verkaik NS; den Dekker AT; Barendregt BH; Pico-Knijnenburg I; Tezcan I; vanDongen JJ; van Gent DC
    Eur J Immunol; 2007 Dec; 37(12):3522-8. PubMed ID: 18034425
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
    Lee PP; Woodbine L; Gilmour KC; Bibi S; Cale CM; Amrolia PJ; Veys PA; Davies EG; Jeggo PA; Jones A
    Clin Immunol; 2013 Dec; 149(3):464-74. PubMed ID: 24230999
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
    Moshous D; Callebaut I; de Chasseval R; Corneo B; Cavazzana-Calvo M; Le Deist F; Tezcan I; Sanal O; Bertrand Y; Philippe N; Fischer A; de Villartay JP
    Cell; 2001 Apr; 105(2):177-86. PubMed ID: 11336668
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of radiosensitive severe combined immunodeficiency disease (RS-SCID) by Comet Assay, management of bone marrow transplantation.
    Fayez EA; Qazvini FF; Mahmoudi SM; Khoei S; Vesaltalab M; Teimourian S
    Immunobiology; 2020 May; 225(3):151961. PubMed ID: 32517885
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA-PKcs deficiency in human: long predicted, finally found.
    van der Burg M; van Dongen JJ; van Gent DC
    Curr Opin Allergy Clin Immunol; 2009 Dec; 9(6):503-9. PubMed ID: 19823081
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
    Mou W; Gao L; He J; Yin J; Xu B; Gui J
    Immunogenetics; 2021 Dec; 73(6):425-434. PubMed ID: 34406419
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
    Strubbe S; De Bruyne M; Pannicke U; Beyls E; Vandekerckhove B; Leclercq G; De Baere E; Bordon V; Vral A; Schwarz K; Haerynck F; Taghon T
    Front Immunol; 2021; 12():674226. PubMed ID: 34220820
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.
    Barthels C; Puchałka J; Racek T; Klein C; Brocker T
    PLoS One; 2013; 8(9):e74838. PubMed ID: 24069355
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.
    Moshous D; Pannetier C; Chasseval Rd Rd; Deist Fl Fl; Cavazzana-Calvo M; Romana S; Macintyre E; Canioni D; Brousse N; Fischer A; Casanova JL; Villartay JP
    J Clin Invest; 2003 Feb; 111(3):381-7. PubMed ID: 12569164
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency.
    Humblet-Baron S; Schönefeldt S; Garcia-Perez JE; Baron F; Pasciuto E; Liston A
    J Allergy Clin Immunol; 2017 Nov; 140(5):1394-1403.e8. PubMed ID: 28185879
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
    Alsmadi O; Al-Ghonaium A; Al-Muhsen S; Arnaout R; Al-Dhekri H; Al-Saud B; Al-Kayal F; Al-Saud H; Al-Mousa H
    BMC Med Genet; 2009 Nov; 10():116. PubMed ID: 19912631
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.
    Sundin M; Marits P; Ramme K; Kolios AGA; Nilsson J
    Clin Immunol; 2019 Mar; 200():16-18. PubMed ID: 30630113
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
    van der Burg M; Ijspeert H; Verkaik NS; Turul T; Wiegant WW; Morotomi-Yano K; Mari PO; Tezcan I; Chen DJ; Zdzienicka MZ; van Dongen JJ; van Gent DC
    J Clin Invest; 2009 Jan; 119(1):91-8. PubMed ID: 19075392
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
    Buck D; Moshous D; de Chasseval R; Ma Y; le Deist F; Cavazzana-Calvo M; Fischer A; Casanova JL; Lieber MR; de Villartay JP
    Eur J Immunol; 2006 Jan; 36(1):224-35. PubMed ID: 16358361
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.